Canonical Allele Identifier: CA372805462

Gene: GLIS3

Linked Data

• gnomAD v4: 9-3856113-T-A
• MyVariant Identifiers: chr9:g.3856113T>A (hg19) ; chr9:g.3856113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856113T>A , CM000671.2:g.3856113T>A	GRCh38
NC_000009.11:g.3856113T>A , CM000671.1:g.3856113T>A	GRCh37
NC_000009.10:g.3846113T>A	NCBI36
NG_011782.1:g.448923A>T
NG_011782.2:g.448923A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.927A>T
ENST00000491889.6:c.*1732A>T	ENSP00000419914.1:n.*1732A>T
ENST00000645252.2:n.811A>T
ENST00000682749.1:c.1904A>T	ENSP00000507306.1:p.Gln635Leu
ENST00000682846.1:c.132-26621A>T	ENSP00000507527.1:n.132-26621A>T
ENST00000682864.1:n.868A>T
ENST00000381971.8:c.2369A>T MANE Select	ENSP00000371398.3:p.Gln790Leu
ENST00000645252.1:n.811A>T
ENST00000324333.14:c.1904A>T	ENSP00000325494.10:p.Gln635Leu
ENST00000381971.7:c.2369A>T	ENSP00000371398.3:p.Gln790Leu
ENST00000461870.5:n.725A>T
ENST00000467497.6:n.909A>T
NM_001042413.1:c.2369A>T	NP_001035878.1:p.Gln790Leu
NM_152629.3:c.1904A>T	NP_689842.3:p.Gln635Leu
XM_005251386.3:c.1904A>T	XP_005251443.1:p.Gln635Leu
XM_005251387.3:c.1703A>T	XP_005251444.1:p.Gln568Leu
XM_005251388.3:c.1703A>T	XP_005251445.1:p.Gln568Leu
XM_011517763.1:c.2369A>T	XP_011516065.1:p.Gln790Leu
XM_011517764.1:c.2369A>T	XP_011516066.1:p.Gln790Leu
XM_011517765.1:c.2369A>T	XP_011516067.1:p.Gln790Leu
XM_011517766.1:c.1904A>T	XP_011516068.1:p.Gln635Leu
XM_011517767.1:c.1703A>T	XP_011516069.1:p.Gln568Leu
XM_005251386.4:c.1904A>T	XP_005251443.1:p.Gln635Leu
XM_005251387.4:c.1703A>T	XP_005251444.1:p.Gln568Leu
XM_005251388.4:c.1703A>T	XP_005251445.1:p.Gln568Leu
XM_011517763.2:c.2369A>T	XP_011516065.1:p.Gln790Leu
XM_011517764.2:c.2369A>T	XP_011516066.1:p.Gln790Leu
XM_011517765.2:c.2369A>T	XP_011516067.1:p.Gln790Leu
XM_011517766.2:c.1904A>T	XP_011516068.1:p.Gln635Leu
XM_011517767.3:c.1703A>T	XP_011516069.1:p.Gln568Leu
XM_017014361.1:c.1904A>T	XP_016869850.1:p.Gln635Leu
NM_001042413.2:c.2369A>T MANE Select	NP_001035878.1:p.Gln790Leu
NM_152629.4:c.1904A>T	NP_689842.3:p.Gln635Leu